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The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment

PloS one, 2022-12, Vol.17 (12), p.e0278857-e0278857

2022

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Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells

Biochimica et biophysica acta. Molecular basis of disease, 2020-12, Vol.1866 (12), p.165956-165956, Article 165956

2020

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New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?

International journal of molecular sciences, 2020-12, Vol.22 (1), p.70

2020

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Oxidative Stress and the Neurovascular Unit

Life (Basel, Switzerland), 2021-07, Vol.11 (8), p.767

2021

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Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling

International journal of molecular sciences, 2021-03, Vol.22 (7), p.3484

2021

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Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis

Neurological sciences, 2019-02, Vol.40 (2), p.243-251

2019

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The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment

PloS one, 2022-12, Vol.17 (12)

2022

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Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa

Antioxidants, 2020-04, Vol.9 (4), p.318

2020

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Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations

Journal of the neurological sciences, 2017-09, Vol.380, p.31-37

2017

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High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations

Frontiers in genetics, 2020-02, Vol.11, p.146

2020

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Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies

Antioxidants, 2020-04, Vol.9 (4), p.307

2020

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Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells

Antioxidants, 2020-11, Vol.9 (11), p.1154

2020

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Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration

Antioxidants, 2022-09, Vol.11 (10), p.1967

2022

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Editome landscape of CCM-derived endothelial cells

RNA biology, 2022-12, Vol.19 (1), p.852-865

2022

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Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline

Antioxidants, 2020-11, Vol.9 (11), p.1158

2020

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New evaluation methods of read mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies

Neural computing & applications, 2021-11, Vol.33 (22), p.15669-15692

2021

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Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes

Molecules (Basel, Switzerland), 2021-11, Vol.26 (22), p.7045

2021

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Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations

Neural regeneration research, 2022-01, Vol.17 (1), p.101-102

2022

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Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data

International journal of molecular medicine, 2017-04, Vol.39 (4), p.1011-1020

2017

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Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

Frontiers in neurology, 2018-11, Vol.9, p.953-953

2018

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Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis

International journal of molecular sciences, 2020-06, Vol.21 (12), p.4321

2020

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RETRACTED ARTICLE: Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis

Scientific reports, 2018-11, Vol.8 (1), p.1-15, Article 16638

2018

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A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

Human genomics, 2017-08, Vol.11 (1), p.18-18, Article 18

2017

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Genes involved in pruning and inflammation are enriched in a large mega-sample of patients affected by Schizophrenia and Bipolar Disorder and controls

Psychiatry research, 2015-08, Vol.228 (3), p.945-949

2015

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Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer-Perusini's Disease and Retinal Dystrophies

Biomedicines, 2023-12, Vol.11 (12), p.3258

2023

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The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment

Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells

New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?

Oxidative Stress and the Neurovascular Unit

Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling

Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis

The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment

Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa

Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations

High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations

Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies

Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells

Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration

Editome landscape of CCM-derived endothelial cells

Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline

New evaluation methods of read mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies

Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes

Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations

Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis

RETRACTED ARTICLE: Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis

A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

Genes involved in pruning and inflammation are enriched in a large mega-sample of patients affected by Schizophrenia and Bipolar Disorder and controls

Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer-Perusini's Disease and Retinal Dystrophies

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